AUTHOR=Tang Shijie , Wei Chuanqi , Wang Xiaoyu , Xiao Min , Luo Fengming , Chen Lei 

TITLE=Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report

JOURNAL=Frontiers in Medicine

VOLUME=10

YEAR=2023

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2023.1184854

DOI=10.3389/fmed.2023.1184854

ISSN=2296-858X

ABSTRACT=<p>Birt-Hogg-Dubé (BHD) syndrome, is a rare genetic disease with heterogeneous manifestations in different populations. In this study, we reported a Chinese female BHD case and her family members with c.1579_1580insA variant in <italic>FLCN</italic> gene, who were characterized by diffused pulmonary cysts/bulla, and reviewed another five familial BHD cases in China. Based on these cases, recurrent spontaneous pneumothorax is likely to be the first symptom for BHD in Chinese patients, with particularly but not limited to c.1579_1580insA variant. Therefore, attention to the early diagnosis of BHD in China should focus on pulmonary signs, but skin or kidney lesions still can not be neglected.</p>